Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs71559680 | 0.827 | 0.120 | 6 | 21430497 | intergenic variant | TAG/CAT | mnv | 6 | |||
rs141116007 | 1.000 | 0.040 | 9 | 133631611 | intron variant | GAGCTGCTCAAGAGAGAGG/- | del | 0.44 | 1 | ||
rs5743293 | 0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 7 | |||
rs11306716 | 0.827 | 0.120 | 2 | 203843041 | intergenic variant | T/-;TT | delins | 5 | |||
rs34670647 | 0.827 | 0.120 | 16 | 30159695 | regulatory region variant | T/- | delins | 5 | |||
rs750805885 | 0.882 | 0.080 | 1 | 150579475 | frameshift variant | -/C | delins | 4.7E-06 | 3 | ||
rs67384697 | 1.000 | 0.040 | 6 | 31268906 | 3 prime UTR variant | C/- | delins | 6.2E-04 | 2 | ||
rs142903734 | 1.000 | 0.040 | 14 | 98202442 | intron variant | GA/-;GAGA | delins | 1 | |||
rs36207871 | 1.000 | 0.040 | 12 | 56290713 | intron variant | AGGAA/- | delins | 0.79 | 1 | ||
rs1217691063 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 614 | |
rs397507444 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 306 | |||
rs4680 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 249 | |
rs4986790 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 223 | ||
rs2910164 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 193 | |
rs1801133 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 174 | |
rs1800629 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 169 | |
rs662 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 157 | |
rs1800795 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 140 | ||
rs2476601 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 121 | |
rs1800872 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 119 | ||
rs671 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 116 | |
rs1800896 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 113 | ||
rs854560 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 113 | ||
rs1800871 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 108 | ||
rs2275913 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 105 |